Gene: AFDN

Alternate names for this Gene: AF6|MLL-AF6|MLLT4|l-afadin

Gene Summary: This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.

Gene is located in Chromosome: 6

Location in Chromosome : 6q27

Description of this Gene: afadin, adherens junction formation factor

Type of Gene: protein-coding

rs1008456 in AFDN gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs2285248 in AFDN gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs140154945 in AFDN gene and response to alcohol PMID 31270906 2020 Genome-wide association studies of the self-rating of effects of ethanol (SRE).